One Woman's Quest to Cure Her Fatal Brain Disease
When Sonia Vallabh and Eric Minikel discovered that Sonia had inherited the gene for a fatal neurodegenerative disease, they quit their jobs to dedicate themselves to finding a treatment. President Obama believes that the American people may be able to help. It cost $400 million to sequence a person’s genome in 2003. Now, the cost has plummeted to around $1,000. These maps of all of the genes in our bodies are now easily and quickly attainable, along with enormous amounts of other medical data. The singular question of modern medicine is what to do with this data, and how to use it effectively, efficiently, democratically, and responsibly to improve human health. In 2015, President Obama announced the Precision Medicine Initiative. Much of that is centered on using the droves of newly attainable information to better understand all the ways in which people and diseases are unique, and to deliver individualized diagnoses and treatments. The 2016 federal budget includes more than $200 million for the initiative. In this episode of If Our Bodies Could Talk, senior editor James Hamblin talks with the president about what to expect from this new approach to health–and with Vallabh and Minikel, who are racing against the clock in search of a cure. Watch more episodes of If Our Bodies Could Talk: ****** Watch more videos: ****** Subscribe to The Atlantic on YouTube: ****** Follow James Hamblin on Twitter: ****** Follow James Hamblin on Facebook: ****** Twitter: ****** Facebook: ****** Google : ******
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Can I ask you to trade places?
Alright.
Is that your good side?
Neither one is my good side.
Sonia Vallabh and Eric Minikel are a wife and husband
research team investigating neurodegenerative
diseases in which they have a personal stake.
You were working as a consultant
and your mother became ill.
I was actually still in law school,
so this was in 2010,
when she first started falling ill.
Because that was in February,
In March I talked to her on the phone and she couldn't
get from the beginning of a sentence to the end.
By summer she really couldn't communicate at all.
She had lost so much weight and muscle mass
that she couldn't really move at all on her own.
That is when she went into a series of hospital stays
that lasted until the end of her life.
The mystery of it was just devastating.
Sonia later found out that her mother died of
a rare condition known as fatal familial insomnia.
It's a disease where infectious proteins known as prions
spread throughout the brain
causing adjacent proteins to misfold
until the brain stops working.
Unlike other prion diseases like mad cow disease,
this one is primarily genetic.
When Sonia got tested, she discovered she has the
same genetic mutation as her mother and is almost
certain to develop the disease and die around age 50.
There is no treatment or cure.
After finding this out,
Sonia and her husband Eric quit their jobs as
consultants to become PhD students at Harvard
to study prion diseases full time.
They have less than two decades to find a treatment.
Their approach is part of a new movement
being called precision medicine.
When did you first come to the term
precision medicine?
State of the Union last year.
When did you realize how that applied to your work?
I think immediately we were like,
"He's talking about the kinds of things we want to do."
Using genetic information about what is the cause of an
individual person's disease to develop a therapy.
Sonia and Eric came to Washington to attend a meeting
on what's being called the Precision Medicine Initiative.
It's ultimate goal is to understand conditions
like prion diseases at a molecular level,
and thereby understand and treat more common
diseases more effectively and more efficiently.
The 2016 budget is around $200 million.
Sonia and I spoke with the president about the initiative.
Something I should have mentioned
that Sonia's story highlights,
so often what we label as a healthcare system
is actually more of a disease care system.
One of the promises of precision medicine is not just
giving researchers and medical practitioners tools to
help cure people, it is also empowering individuals to
monitor and take a more active role in their own health.
The precision medicine initiative is really about data.
One project led by the National Institutes of Health is to
gather the results of medical tests and records
from one million volunteers.
All will agree to have their entire genomes sequenced—
a record of every gene in their bodies, and uploaded
to a cloud that could be accessed by researchers.
The project requires collaboration among scientists,
policy makers,
and technologists in the private and public sectors.
You spearheaded the initial human genome project.
How much did it cost to sequence a genome then?
That first human genome we finished in 2003
cost about $400 million.
How much does it cost to sequence a genome today?
About $1000.
Don't you wish you could go back in time
and sell some genomes?
If I was a smarter businessman I would have
thought of that but I didn't.
Medicine has an interesting historical relationship
with data where we tend to think,
"Oh we should just acquire as much as we can,"
before we quite know what to do with it,
and we get ahead of ourselves.
Do you think that's a potential here?
Could it have negative consequences?
We should learn from our past flubs because if we really
want to find out whether having your entire genome
sequenced is valuable for keeping you healthy or
managing illness if it occurs, well let's try that out.
This is not just about genome sequencing.
This is also about environmental exposures,
it's about health behaviors,
it's about what's happening in your body as you walk
around every day using wearable sensors.
I've got a couple of them on right now.
I don't think we'll really understand what the genome
is telling us unless you have collected that other data.
It's environment, it's genetics, it's some mix of the two.
If you haven't looked at the environment you're not
going to understand what the genetic part is telling you.
Nobody is saying that this is easy when
you're talking about the genome of millions of people.
You're pretty soon talking about exabytes of data.
Exabytes are billions of gigabytes of data.
The cloud's going to be so big it's going to rain.
Interoperability among different sources of data
is an enormous challenge.
We've been working on that for years but it is worth
doing, it is worth chewing on these challenges,
finding ways to overcome them, because the benefits
to society are going to be immense.
When people donate this data, it is very private and
that can make people hesitant.
How do you give them a feeling of security?
This is a public spirited group I should say.
But of course they value privacy and security of their
data and we are determined to protect it.
Are you donating your genome to the cohort?
Absolutely.
I would have been surprised if you said no.
I plan on open-sourcing my genome.
For the entire Internet.
I'll put it up on BitTorrent.
There's a project called the Personal Genome project
run out of Harvard Medical School,
where you can donate your genome to the public.
I firmly believe in open data
and so my genome is being re-sequenced right now
and as soon as I've got that I plan to put it online.
With your name attached to it?
Sure, I'm happy to attach my name.
There are some hypothetical risks.
Someone could take my DNA and maybe at some point
clone my blood and plant it at a crime scene.
I just think these risks are reasonably remote.
The most recent data on life spans in America shows
increasing disparity between the rich and the poor.
Between the top 10 percent and bottom 10 percent
of incomes disparity in men is 14 years.
How do we ensure that a program investigating
high-tech medicine isn't exacerbating that disparity?
Part of those disparities have to do
with simple low-tech issues.
Low-income persons having access to regular checkups
and primary care, are they getting access to good food?
Those are the issues that we as a society should
solve generally, without reference to precision medicine.
Obviously the Affordable Care Act generated
a lot of bipartisan rancor.
I heard about that.
But even if you don't like how we've designed the
Affordable Care Act, this is why having some
mechanism for universal healthcare is so important.
The breakthroughs we see in medicine are going to
be significant over the next several decades.
A democracy can't function if it's not just that some
people have a bigger house or a bigger car, but they are
living 20 or 30 years longer than people without money.
While you're emphasizing that everyone is very different
in ways we're just beginning to understand, by pooling
all of that data, and understanding those
differences together, we collectively benefit.
We may think because we look different on the surface
that there are these vast differences.
It may turn out that the key to you curing your disease
is understanding my disease or my genetic makeup.
Part of what makes this exciting but difficult is getting
people to recognize that at base, for all our differences,
we have more in common than separates us.
We share 99.9 percent of our DNA.
Not just you and I, but all people.
If you set out initially to examine the causes of one
particular disease and end up understanding pathways
that affect many diseases, some as common as
dementia, Alzheimer's, Parkinson's,
frontotemporal dementia,
could the implications of your research
end up being much bigger than you ever expected?
Absolutely.
Right now, there's no
neurodegenerative disease that's treatable.
At most we have Band-Aids.
We need proof of principle that it's possible
to treat a protein misfolding disease.
That's going to pave the way for treating other diseases.
I think you guys are going to do it.
Thanks.
Appreciate the vote of confidence.
